Varaico: Literature-Extracted Genetic Variants

BAP1

1,324 papers

RefSeq Summary

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer...

Pfam Domains

Peptidase_C12aa 5–215UCSCUbiquitin carboxyl-terminal hydrolase, family 1

UCH_Caa 643–688UCSCUbiquitin carboxyl-terminal hydrolases

Gene Aliases

HGNC Name

BRCA1 associated deubiquitinase 1

HGNC Alias Symbols

hucep-6; KIAA0272; UCHL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004656.4

p.S513*

c.1538C>G

Surrounding Variants

1 paper

NM_004656.4

p.S513L

c.1538C>T

3 papers

NM_004656.4

p.S513*

c.1538C>A

1 paper

NM_004656.4

p.S513S

c.1539A>G

1 paper

NM_004656.4

p.S513insFs

c.1538_1539insC

1 paper

NM_004656.4

p.A514S

c.1540G>T

1 paper

NM_004656.4

p.A514P

c.1540G>C

2 papers

NM_004656.4

p.A514T

c.1540G>A

1 paper

NM_004656.4

p.I511_S513del3

c.1531_1538del9

2 papers

NM_004656.4

p.R512R

c.1536C>T

1 paper

NM_004656.4

p.R512fs

c.1534_1535fs

2 papers

NM_004656.4

p.R512L

c.1535G>T

1 paper

NM_004656.4

p.R512P

c.1535G>C